ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1609del (p.Ser537fs)

dbSNP: rs863225317
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003335201 SCV000935075 pathogenic Familial adenomatous polyposis 1 2018-12-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant has been observed in an individual affected with familial adenomatous polyposis (PMID: 11145293). This variant is also known as deletion A causes frameshift at codon 537 and termination at 548 in the literature. ClinVar contains an entry for this variant (Variation ID: 217932). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser537Valfs*12) in the APC gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003335201 SCV004045500 pathogenic Familial adenomatous polyposis 1 2023-05-02 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000201973 SCV000256926 likely pathogenic not provided no assertion criteria provided research

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